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    KCNJ16 potassium inwardly rectifying channel subfamily J member 16 [ Homo sapiens (human) ]

    Gene ID: 3773, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KCNJ16provided by HGNC
    Official Full Name
    potassium inwardly rectifying channel subfamily J member 16provided by HGNC
    Primary source
    HGNC:HGNC:6262
    See related
    Ensembl:ENSG00000153822 MIM:605722; AllianceGenome:HGNC:6262
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BIR9; HKTD; KIR5.1
    Summary
    Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
    Expression
    Biased expression in kidney (RPKM 78.7), thyroid (RPKM 73.9) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNJ16 in Genome Data Viewer
    Location:
    17q24.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (70075225..70135608)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (70953535..71013930)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (68071366..68131749)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371881 Neighboring gene uncharacterized LOC112267896 Neighboring gene uncharacterized LOC124904053 Neighboring gene long intergenic non-protein coding RNA 1028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12660 Neighboring gene uncharacterized LOC124904052 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:68124354-68125553 Neighboring gene uncharacterized LOC105371882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8907 Neighboring gene KCNJ2 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. PSD-95 mediates formation of a functional homomeric Kir5.1 channel in the brain. Tanemoto M, et al. Neuron, 2002 Apr 25. PMID 11988170
    2. Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness. Schlingmann KP, et al. J Am Soc Nephrol, 2021 Jun 1. PMID 33811157, Free PMC Article
    3. Kir5.1 channels: potential role in epilepsy and seizure disorders. Staruschenko A, et al. Am J Physiol Cell Physiol, 2022 Sep 1. PMID 35848616, Free PMC Article
    4. Expedient total synthesis of small to medium-sized membrane proteins via Fmoc chemistry. Zheng JS, et al. J Am Chem Soc, 2014 Mar 5. PMID 24559202
    5. An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3. Bouhouche A, et al. BMC Med Genet, 2012 Mar 21. PMID 22436252, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Kir5.1 channels: potential role in epilepsy and seizure disorders.
      Title: Kir5.1 channels: potential role in epilepsy and seizure disorders.
    2. lncRNA XIST is associated with preeclampsia and mediates trophoblast cell invasion via miR-340-5p/KCNJ16 signaling pathway.
      Title: lncRNA XIST is associated with preeclampsia and mediates trophoblast cell invasion via miR-340-5p/KCNJ16 signaling pathway.
    3. Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
      Title: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
    4. HNF1beta is a transcriptional activator of Kcnj16. Hence, patients with HNF1beta mutations may have reduced Kir5.1 activity in the kidney, resulting in hypokalemia and hypomagnesemia.
      Title: Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease.
    5. Gene expression levels of three randomly selected DEGs, VCAN, COL5A1 and KCNJ16, were examined using RT-PCR in 10 ATC samples.. angiogenesis was activated by the high expression of CTHRC1, VCAN and POSTN, providing necessary nutrition for tumor cells
      Title: Elucidation of the molecular mechanisms of anaplastic thyroid carcinoma by integrated miRNA and mRNA analysis.
    6. Variability has been found in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel approximately 1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
      Title: Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
    7. Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients
      Title: Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.
    8. study provides an explanation for the pathophysiology of the p.A167V KCNJ10 mutation, which had not been considered pathogenic on its own; findings provide evidence for functional cooperation of KCNJ10 and KCNJ16; in vitro ascertainment of KCNJ10 function may necessitate co-expression with KCNJ16
      Title: KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hypokalemic tubulopathy and deafness
    MedGen: C5543621 OMIM: 619406 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33717

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables inward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inward rectifier potassium channel activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables inward rectifier potassium channel activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in potassium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within potassium ion transmembrane transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in potassium ion transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of voltage-gated potassium channel complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    inward rectifier potassium channel 16
    Names
    inward rectifier K(+) channel Kir5.1
    inward rectifier K+ channel KIR5.1
    potassium channel, inwardly rectifying subfamily J member 16
    potassium voltage-gated channel subfamily J member 16

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001270422.2 → NP_001257351.1  inward rectifier potassium channel 16 isoform b

      See identical proteins and their annotated locations for NP_001257351.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
      Source sequence(s)
      AF153816, DA071381, DA627411, DA628604
      Consensus CDS
      CCDS11687.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      A8K434, Q8N538
      Related
      ENSP00000479817.1, ENST00000615244.4
      Conserved Domains (2) summary
      pfam01007
      Location:37 → 173
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:182 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    2. NM_001291622.3 → NP_001278551.2  inward rectifier potassium channel 16 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
      Source sequence(s)
      AC005208, KF459700
      Consensus CDS
      CCDS11687.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      A8K434, Q8N538
      Conserved Domains (2) summary
      pfam01007
      Location:37 → 173
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:182 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    3. NM_001291623.2 → NP_001278552.2  inward rectifier potassium channel 16 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
      Source sequence(s)
      AC005208
      Consensus CDS
      CCDS11687.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      A8K434, Q8N538
      Conserved Domains (2) summary
      pfam01007
      Location:37 → 173
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:182 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    4. NM_001291624.1 → NP_001278553.1  inward rectifier potassium channel 16 isoform b

      See identical proteins and their annotated locations for NP_001278553.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
      Source sequence(s)
      AF153816, DA071381, DA636394
      Consensus CDS
      CCDS11687.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      A8K434, Q8N538
      Conserved Domains (2) summary
      pfam01007
      Location:37 → 173
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:182 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    5. NM_001291625.1 → NP_001278554.1  inward rectifier potassium channel 16 isoform b

      See identical proteins and their annotated locations for NP_001278554.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
      Source sequence(s)
      AF153816, DA109745, DA636394
      Consensus CDS
      CCDS11687.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      A8K434, Q8N538
      Conserved Domains (2) summary
      pfam01007
      Location:37 → 173
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:182 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    6. NM_018658.4 → NP_061128.3  inward rectifier potassium channel 16 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform b. Variants 1-8 all encode isoform b.
      Source sequence(s)
      AC005208, KF459700
      Consensus CDS
      CCDS11687.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      A8K434, Q8N538
      Related
      ENSP00000283936.1, ENST00000283936.5
      Conserved Domains (2) summary
      pfam01007
      Location:37 → 173
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:182 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    7. NM_170741.4 → NP_733937.3  inward rectifier potassium channel 16 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
      Source sequence(s)
      AC005208, KF459700
      Consensus CDS
      CCDS11687.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      A8K434, Q8N538
      Related
      ENSP00000376439.1, ENST00000392671.6
      Conserved Domains (2) summary
      pfam01007
      Location:37 → 173
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:182 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    8. NM_170742.3 → NP_733938.3  inward rectifier potassium channel 16 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
      Source sequence(s)
      AC005208
      Consensus CDS
      CCDS11687.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      A8K434, Q8N538
      Related
      ENSP00000376438.1, ENST00000392670.5
      Conserved Domains (2) summary
      pfam01007
      Location:37 → 173
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:182 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      70075225..70135608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024609.2 → XP_016880098.1  inward rectifier potassium channel 16 isoform X1

      UniProtKB/TrEMBL
      A8K434, Q8N538
      Conserved Domains (1) summary
      pfam01007
      Location:72 → 387
      IRK; Inward rectifier potassium channel

    2. XM_047435953.1 → XP_047291909.1  inward rectifier potassium channel 16 isoform X1

    3. XM_047435952.1 → XP_047291908.1  inward rectifier potassium channel 16 isoform X1

    4. XM_047435950.1 → XP_047291906.1  inward rectifier potassium channel 16 isoform X1

    5. XM_047435955.1 → XP_047291911.1  inward rectifier potassium channel 16 isoform X1

    6. XM_047435951.1 → XP_047291907.1  inward rectifier potassium channel 16 isoform X1

    7. XM_006721886.4 → XP_006721949.1  inward rectifier potassium channel 16 isoform X1

      See identical proteins and their annotated locations for XP_006721949.1

      UniProtKB/TrEMBL
      A8K434, Q8N538
      Conserved Domains (1) summary
      pfam01007
      Location:72 → 387
      IRK; Inward rectifier potassium channel

    8. XM_047435954.1 → XP_047291910.1  inward rectifier potassium channel 16 isoform X1

    9. XM_006721887.4 → XP_006721950.1  inward rectifier potassium channel 16 isoform X1

      See identical proteins and their annotated locations for XP_006721950.1

      UniProtKB/TrEMBL
      A8K434, Q8N538
      Conserved Domains (1) summary
      pfam01007
      Location:72 → 387
      IRK; Inward rectifier potassium channel

    10. XM_017024610.2 → XP_016880099.1  inward rectifier potassium channel 16 isoform X1

      UniProtKB/TrEMBL
      A8K434, Q8N538
      Conserved Domains (1) summary
      pfam01007
      Location:72 → 387
      IRK; Inward rectifier potassium channel

    11. XM_047435956.1 → XP_047291912.1  inward rectifier potassium channel 16 isoform X1

    12. XM_011524781.3 → XP_011523083.1  inward rectifier potassium channel 16 isoform X2

      See identical proteins and their annotated locations for XP_011523083.1

      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      A8K434, Q8N538
      Conserved Domains (2) summary
      pfam01007
      Location:37 → 173
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:182 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    13. XM_047435957.1 → XP_047291913.1  inward rectifier potassium channel 16 isoform X1

    14. XM_005257337.5 → XP_005257394.1  inward rectifier potassium channel 16 isoform X1

      See identical proteins and their annotated locations for XP_005257394.1

      UniProtKB/TrEMBL
      A8K434, Q8N538
      Conserved Domains (1) summary
      pfam01007
      Location:72 → 387
      IRK; Inward rectifier potassium channel

    15. XM_047435958.1 → XP_047291914.1  inward rectifier potassium channel 16 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      70953535..71013930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316008.1 → XP_054171983.1  inward rectifier potassium channel 16 isoform X1

    2. XM_054316013.1 → XP_054171988.1  inward rectifier potassium channel 16 isoform X1

    3. XM_054316011.1 → XP_054171986.1  inward rectifier potassium channel 16 isoform X1

    4. XM_054316006.1 → XP_054171981.1  inward rectifier potassium channel 16 isoform X1

    5. XM_054316015.1 → XP_054171990.1  inward rectifier potassium channel 16 isoform X1

    6. XM_054316007.1 → XP_054171982.1  inward rectifier potassium channel 16 isoform X1

    7. XM_054316009.1 → XP_054171984.1  inward rectifier potassium channel 16 isoform X1

    8. XM_054316014.1 → XP_054171989.1  inward rectifier potassium channel 16 isoform X1

    9. XM_054316010.1 → XP_054171985.1  inward rectifier potassium channel 16 isoform X1

    10. XM_054316012.1 → XP_054171987.1  inward rectifier potassium channel 16 isoform X1

    11. XM_054316016.1 → XP_054171991.1  inward rectifier potassium channel 16 isoform X1

    12. XM_054316020.1 → XP_054171995.1  inward rectifier potassium channel 16 isoform X2

      UniProtKB/Swiss-Prot
      Q9NPI9

    13. XM_054316017.1 → XP_054171992.1  inward rectifier potassium channel 16 isoform X1

    14. XM_054316018.1 → XP_054171993.1  inward rectifier potassium channel 16 isoform X1

    15. XM_054316019.1 → XP_054171994.1  inward rectifier potassium channel 16 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPI9.1 GenPept UniProtKB/Swiss-Prot:Q9NPI9

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